gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6847755 (EAS)
Genomes Max Group AF
0.6847755 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22828738A>G , CM000663.2:g.22828738A>G | GRCh38 |
| NC_000001.10:g.23155231A>G , CM000663.1:g.23155231A>G | GRCh37 |
| NC_000001.9:g.23027818A>G | NCBI36 |
| NG_011804.2:g.122901A>G , LRG_780:g.122901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374630.8:c.812-34299A>G MANE Select | ENSP00000363761.3:n.812-34299A>G | |
| ENST00000374627.1:c.794-34299A>G | ENSP00000363758.1:n.794-34299A>G | |
| ENST00000374630.7:c.812-34299A>G | ENSP00000363761.3:n.812-34299A>G | |
| ENST00000374632.7:c.812-34299A>G | ENSP00000363763.3:n.812-34299A>G | |
| ENST00000400191.7:c.812-34299A>G | ENSP00000383053.3:n.812-34299A>G | |
| ENST00000465676.1:n.52+28447A>G | ||
| ENST00000544305.5:c.812-34299A>G | ENSP00000444174.1:n.812-34299A>G | |
| NM_001309192.1:c.812-34299A>G | NP_001296121.1:n.812-34299A>G | |
| NM_001309193.1:c.812-34299A>G | NP_001296122.1:n.812-34299A>G | |
| NM_004442.6:c.812-34299A>G | NP_004433.2:n.812-34299A>G | |
| NM_004442.7:c.812-34299A>G , LRG_780t1:c.812-34299A>G | NP_004433.2:n.812-34299A>G | |
| NM_017449.3:c.812-34299A>G | NP_059145.2:n.812-34299A>G | |
| NM_017449.4:c.812-34299A>G , LRG_780t2:c.812-34299A>G | NP_059145.2:n.812-34299A>G | |
| XM_006710441.2:c.791-34299A>G | XP_006710504.1:n.791-34299A>G | |
| XM_006710442.2:c.812-34299A>G | XP_006710505.1:n.812-34299A>G | |
| XM_006710441.4:c.791-34299A>G | XP_006710504.1:n.791-34299A>G | |
| XM_006710442.4:c.812-34299A>G | XP_006710505.1:n.812-34299A>G | |
| NM_001309192.2:c.812-34299A>G | NP_001296121.1:n.812-34299A>G | |
| NM_001309193.2:c.812-34299A>G | NP_001296122.1:n.812-34299A>G | |
| NM_017449.5:c.812-34299A>G MANE Select | NP_059145.2:n.812-34299A>G |